A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591716



Internal ID16379125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130413198..130413949hg38UCSC Ensembl
Innerchr3:130132042..130132793hg19UCSC Ensembl
Innerchr3:131614732..131615483hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38752
hg19752
hg18752
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8589n54
Supporting Variantsnssv973532, nssv973533, nssv973531
Samples
Known GenesCOL6A5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591716
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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